Familial Syringomas—A Case Report

ABSTRACT

Familial syringomas were diagnosed in a 37‐year‐old female with lesions on the vulva/face/trunk and with periorbital lesions in family members. A correct and early diagnosis of vulvar syringomas is important as these can be erroneously diagnosed as a STI (warts/molluscum contagiosum) which may result in unnecessary psychological distress.

1. Introduction

Syringomas are benign adnexal tumors derived from intraepidermal eccrine ducts [1]. Williams and Shinkai [2] conducted a systematic review of patients with multiple syringomas and found that syringomas characteristically present in young females mainly localized in the periocular region as single or multiple lesions. Uncommon sites of involvement include the genitalia, chest, palms, and scalp [2]. The lesions are benign, generally nonprogressive and infrequently may spontaneously resolve [2]. In 1987, Friedman and Butler [3] proposed a classification for syringomas which include four clinical variants: a localized variant, a variant associated with Down syndrome, a familial variant, and a form that includes multiple and eruptive syringomas [3]. Eruptive syringomas represent syringomas that develop in large numbers and often in crops on the chest, upper abdomen, neck, axillae, and periumbilical region [4, 5]. Less commonly, eruptive distributions may occur in several clinical contexts, including familial syringomas, and rarely as a feature of tumor syndromes [6, 7, 8]. A classification of familial syringomas has been proposed by Lau and Haber [5] based on clinical manifestations and genetic morphology inclusive of factors such as anatomic site, distribution of the lesions, and type of syringoma.

2. Case History/Examination

A 37‐year‐old healthy female of mixed race (Afro‐Caribbean and Latino) presented to the clinic with a 3 year history of numerous papules on her vulva (Figure 1a). She noted similar papules on her face with gradual spread to her chest and abdomen over the past 3 years. The lesions were asymptomatic and only of cosmetic concern. She had no other significant medical history but her family history was notable for similar periocular papules in her brother (who refused biopsy) (Figure 2a) and her deceased mother (photograph provided by the patient) (Figure 2b).

FIGURE 1.

(a) Multiple discrete and confluent, skin‐colored, smooth, dome‐shaped papules distributed symmetrically over both labia majora. (b) Scattered papules were also found on the forehead and periocular region. (c) Reddish brown papules on the abdomen. (d) Fewer papules on the upper chest.

FIGURE 2.

Perioccular papules in the patient's (a) brother and (b) mother.

Examination of the vulva revealed the presence of multiple discrete 2–5 mm, skin‐colored, firm, smooth, dome‐shaped papules (Figure 1a). They were non‐tender and were symmetrically distributed over both labia majora. A total body examination revealed the presence of similar papules scattered on the periocular region, forehead, abdomen, and chest (Figure 1b–d).

3. Differential Diagnosis, Investigations, Treatment

The differential diagnoses of this clinical presentation include syringomas, milia, trichoepitheliomas, sebaceous hyperplasia, xanthomas, xanthelasma, mastocytosis, eruptive vellus hair cysts, and epidermoid cysts.

Punch biopsies were performed on lesions from her abdomen (Figure 3a,b) and vulva (Figure 3c) which both showed nests of tadpole‐shaped ductal structures in the superficial to mid dermis, the presence of multiple small ducts and epithelial cords in the superficial to mid dermis, and cystic eccrine ducts with characteristic comma‐shaped tails (“tadpole” shaped appearance) consistent with syringomas. The patient opted for no treatment due to concerns of dyspigmentation and scarring, and follow‐up showed no progression of the lesions.

FIGURE 3.

Biopsies of lesions from her abdomen (a, b) and vulva (c) showed the presence of multiple small ducts and epithelial cords within the dermis, and cystic eccrine ducts with a characteristic comma‐shaped tail.

4. Discussion

Jacquet and Darier [4] first described eruptive syringomas in 1887 as a rare variant of lesions that develop in large numbers and often in crops on the chest, upper abdomen, neck, axillae, and periumbilical region during childhood or adolescence [4]. Familial syringomas are those that occur in familial cohorts and are thought to be of autosomal inheritance possibly associated with a loss of heterozygosity on chromosome 16q22². Familial syringomas tend to occur with increased prevalence in unusual anatomic sites including the vulva, neck, and palms of the hands as compared with nonfamilial cases [2]. This underscores the need for total body examination as genital lesions may be missed and the importance of establishing a correct and early diagnosis of vulvar syringomas which may have a rather banal appearance and can often be under‐recognized [2] as the differential diagnosis includes milia, Fox‐Fordyce disease, epidermal inclusion cysts, steatocystoma multiplex, and sexually transmitted infections (STIs) such as condylomata acuminata and molluscum contagiosum. Innocuous lesions such as vulvar syringomas may masquerade as a STI and an erroneous diagnosis can have a negative impact on the patient and may result in unnecessary psychological distress including shock, anxiety, anger, guilt, and shame.

In the classification of familial syringomas proposed by Lau and Haber [5], familial cases of syringomas may be localized, typically in the periocular region which is the most common site for multiple syringomas (type 1). Another variant of localized familial syringomas is cases that present with milia‐like lesions (type 2) [3, 9]. There are reports in the literature of eruptive syringomas in one family member and localized syringomas in the periorbital region in different family members (type 3) [5, 10] and more rarely familial eruptive syringomas in two or more members of the same family (type 4) [1, 5, 11]. Our case report may be described as type 3 familial syringomas, eruptive syringomas in one family member (female patient) and localized papules clinically similar to syringomas in the periorbital region in her brother and mother.

Syringomas are usually diagnosed by histopathological examination using hematoxylin‐eosin (H&E) staining on skin biopsy specimens which demonstrate multiple small ducts and epithelial cords within the dermis, and dilated cystic eccrine ducts with comma‐shaped tails which give them a “tadpole” shaped appearance. The pathogenesis of familial syringomas is contentious; however, the most commonly accepted theory is that syringomas are benign neoplasms which arise from the intraepidermal portion of eccrine ducts [5, 12]. Hashimoto et al. [13] utilized staining with monoclonal antikeratin antibodies (EKH4 and EKH6) and demonstrated that syringomas arise from the basal layers of the epidermis and have eccrine secretory and ductal structures [13].

Treatment of syringomas may be offered to patients to improve cosmetic appearance; however, the lesions are benign, usually asymptomatic, generally remain stable and some patients opt for no intervention. Treatment is often frustrating with variable success rates reported for the different treatment modalities as the lesions are multiple, located in the dermis and complications may ensue including scarring, dyspigmentation and recurrence, Typically employed strategies include the CO₂ laser, intralesional electrocoagulation, surgical excision, topical and systemic retinoids [2, 14]. Very rarely, syringomas may regress later in life [2].

5. Conclusion

There are few reports of the occurrence of familial syringomas which probably have an autosomal pattern of inheritance. We report, to our knowledge, the first case from the Caribbean of familial syringomas in a 37‐year‐old female presenting with lesions on vulva, face chest, and abdomen and with similar localized periorbital lesions in her brother and mother which highlights the need for total body skin examination and the importance of establishing a correct diagnosis as vulvar syringomas may often be erroneously diagnosed and managed as STIs resulting in unnecessary psychological distress for the patient.

Author Contributions

Jeanine Reemaul: conceptualization, investigation, methodology, resources, writing – original draft, writing – review and editing. Abigail Cumberbatch: conceptualization, investigation, methodology, writing – original draft, writing – review and editing. Robert Jeffrey Edwards: conceptualization, methodology, writing – original draft, writing – review and editing.

Ethics Statement

All procedures performed were in accordance with ethical standards. The examination was made in accordance with the approved principles.

Consent

This article is published with the written consent of the patient, the next of kin and for the deceased relative.

Conflicts of Interest

The authors declare no conflicts of interest.

Data Availability Statement

All necessary data are available in the article itself.